Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and pathophysiology, and evaluate its potential therapeutic options. The GABRA1 (R214C) variant was identified using whole exome sequencing, and th...

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Detalhes bibliográficos
Publicado no:Mol Brain
Main Authors: Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S., Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B., Guella, Ilaria, Farrer, Matthew J., Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6842544/
https://ncbi.nlm.nih.gov/pubmed/31707987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0513-9
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